Actively Recruiting
Gene Therapy for Alpha 1- Antitrypsin Deficiency
Led by Weill Medical College of Cornell University · Updated on 2026-03-13
16
Participants Needed
1
Research Sites
387 weeks
Total Duration
On this page
Sponsors
W
Weill Medical College of Cornell University
Lead Sponsor
N
National Heart, Lung, and Blood Institute (NHLBI)
Collaborating Sponsor
AI-Summary
What this Trial Is About
This is a study of gene therapy to treat alpha 1-antitrypsin (AAT) deficiency. This study aims to treat AAT deficiency with a single administration of AAV8hAAT(AVL), a gene therapy that codes for an oxidation resistant form of the AAT protein, which if safe and if efficacious, will protect the lung on a persistent basis. We hope to learn the safety/toxicity and initial evidence of efficacy of intravenous delivery of this gene therapy to alpha 1-antitrypsin deficient individuals.
CONDITIONS
Official Title
Gene Therapy for Alpha 1- Antitrypsin Deficiency
Who Can Participate
Eligibility Criteria
You may qualify if you...
- AAT genotype ZZ, or Z null heterozygotes, and if on augmentation therapy, pre-therapy AAT serum levels <11 bcM
- Emphysema as assessed by chest high resolution computational tomography (HRCT)
- Lung function parameters consistent with mild to moderate loss of lung function and the presence of emphysema
- Troponin T within normal limits
- Normal liver ultrasound and serum alpha fetoprotein
- Normal kidney function
- No contraindications to receiving corticosteroid immunosuppression
You will not qualify if you...
- Individuals receiving systemic corticosteroids or other immunosuppressive medications for pre-existing conditions
- Inability to tolerate immunosuppression with corticosteroids (e.g., uncontrolled diabetes)
- Individuals with an immunodeficiency disease, or evidence of active infection of any type, including human immunodeficiency virus
- Evidence of major central nervous system, major psychiatric, musculoskeletal or immune disorder
- Prior history of myocardial infarction or cancer within the past 5 years (other than basal cell carcinoma of the skin)
- Decompensated heart failure (NY4A class III-IV at time of baseline clinical assessment)
- Abnormal ECG at screening with findings consistent with cardiac disease
- Females who are currently pregnant or lactating
- Any history of allergies to drugs used for bronchoscopy, including xylocaine, lidocaine, versed, valium, atropine, pilocarpine, isoproterenol, terbutaline, aminophylline, or any local anesthetic
- Individuals receiving experimental medications or participating in another experimental protocol for at least 3 months prior to entry to the study
- Use of oxygen supplementation
- Risk for thromboembolic disease
- History of significant cardiovascular disease, hypertension, prior myocardial infarction and/or cerebrovascular event
- Individuals who are currently on beta-blockers, or other cardiac therapy related drugs
- Prior history of hypersensitivity or anaphylaxis associated with the administration of any AAT product
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
WCMC Department of Genetic Medicine
New York, New York, United States, 10021
Actively Recruiting
Research Team
N
Niamh Savage
CONTACT
S
Sandra Hyde
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
SEQUENTIAL
Primary Purpose
TREATMENT
Number of Arms
4
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